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SLC45A1 solute carrier family 45 member 1 [ Homo sapiens (human) ]

Gene ID: 50651, updated on 26-Sep-2020

Summary

Official Symbol
SLC45A1provided by HGNC
Official Full Name
solute carrier family 45 member 1provided by HGNC
Primary source
HGNC:HGNC:17939
See related
Ensembl:ENSG00000162426 MIM:605763
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DNB5; IDDNPF; PAST-A
Summary
This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]
Expression
Broad expression in brain (RPKM 4.3), endometrium (RPKM 1.5) and 19 other tissues See more
Orthologs

Genomic context

See SLC45A1 in Genome Data Viewer
Location:
1p36.23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (8318114..8344167)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8378171..8404227)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376695 Neighboring gene RNA, U6 small nuclear 991, pseudogene Neighboring gene arginine-glutamic acid dipeptide repeats Neighboring gene RERE antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 128

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
A genome-wide scan for breast cancer risk haplotypes among African American women.
GeneReviews: Not available
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
GeneReviews: Not available
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
GeneReviews: Not available
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
MedGen: C4479636 OMIM: 617532 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26758, KIAA0458

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sucrose:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
glucose transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
sucrose transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
proton-associated sugar transporter A
Names
H+/sugar symporter
deleted in neuroblastoma 5 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034025.1 RefSeqGene

    Range
    5001..31083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080397.3NP_001073866.3  proton-associated sugar transporter A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL356072, BU527858, BY798065, HY013542, HY328991
    Consensus CDS
    CCDS30577.2
    Related
    ENSP00000418096.2, ENST00000471889.5
    Conserved Domains (1) summary
    cd17313
    Location:87722
    MFS_SLC45_SUC; Solute carrier family 45 and similar sugar transporters of the Major Facilitator Superfamily of transporters
  2. NM_001379614.1NP_001366543.1  proton-associated sugar transporter A isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL356072
  3. NM_001379615.1NP_001366544.1  proton-associated sugar transporter A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL356072
  4. NM_001379616.1NP_001366545.1  proton-associated sugar transporter A isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL356072
  5. NM_001379617.1NP_001366546.1  proton-associated sugar transporter A isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL356072
  6. NM_001379618.1NP_001366547.1  proton-associated sugar transporter A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL356072
    Related
    ENST00000497660.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    8318114..8344167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447372.1XP_024303140.1  proton-associated sugar transporter A isoform X4

    Conserved Domains (1) summary
    TIGR01301
    Location:340512
    GPH_sucrose; GPH family sucrose/H+ symporter
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